Isaac R L Xu, Matt C Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia De Jesus, Mary M Reilly, Andrea Cortese, Michael E Shy, Steven S Scherer, David N Herrmann, Vera Fridman, Jonathan Baets, Mario Saporta, Reza Seyedsadjadi, Tanya Stojkovic, Kristl G Claeys, Pooja Patel, Shawna Feely, Adriana P Rebelo, Maike F Dohrn, Stephan Züchner
BACKGROUND: Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable variability in clinical severity. It is hypothesized that genetic modifiers contribute to this heterogeneity, the identification of which may reveal novel therapeutic targets. In this study, we present a comprehensive analysis of clinical examination results from 1564 CMT1A patients sourced from a prospective natural history study conducted by the RDCRN-INC (Inherited Neuropathy Consortium)...
April 5, 2024: Journal of the Peripheral Nervous System: JPNS